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orofaciodigital syndrome 17 (OFD17) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

orofaciodigital syndrome 17

MONDO:0033375

Also known as:OFD17OFDS XVIIoral-facial-digital syndrome, type XVII

Overview

An orofaciodigital syndrome caused by a mutation in the INTU gene.

GeneticsAutosomal recessive · INTU (chr 4)

OnsetCONGENITAL

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased body weight, Micropenis, Hearing loss (hearing impairment), and Delayed speech and language development and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Delayed speech and language development, Enlarged brain ventricles (ventriculomegaly)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

INTU encodes inturned planar cell polarity protein (942 aa). Plays a key role in ciliogenesis and embryonic development. Highest expression in Ovary (12.0 TPM) and Nerve Tibial (11.8 TPM).

Orofaciodigital syndrome 17 is associated with mutations in the INTU gene on chromosome 4.

INTU is classified as a druggable target (Cell Surface category) with score 52.2.

Diagnosis

Genetic testing for INTU is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 23 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for orofaciodigital syndrome 17.

3 publications have been identified in PubMed for orofaciodigital syndrome 17. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Basic Science / Preclinical]
Lakhanpal V (2024). [PMID: 38839402](https://pubmed.ncbi.nlm.nih.gov/38839402/). *BMJ Case Rep*. [Case Report / Case Series]
Lin WD (2024). [PMID: 38886662](https://pubmed.ncbi.nlm.nih.gov/38886662/). *BMC Genomics*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617926

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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orofaciodigital syndrome 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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